Canonical Allele Identifier: PA2741909371
Gene: CREBBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2646130
ClinVar RCV Id: RCV003426559
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004371.2:p.Ser2340Arg
CA394550798
NM_004380.3:c.7020T>G
CA394550799
NM_004380.3:c.7020T>A
CA394550809
NM_004380.3:c.7018A>C